Company registration number." CE019577 Charity registration number.. 1186327 The Schinzel-Giedion Syndrome Foundation {A company limited by guaranlee) Annual Report and Financ￿1 Statements for the Year Ended 31 March 2025 MG Group (Professional Services) Limited Chartered Accountants 166 College Road Harrow Middlesex HA1 1BH The sch1nzel￿led10n Syndrome Foundation Contents Reference and Adminislralive Details Trustees, Report 2105 Statement of Trustees, Responsibilities Independent Examinerfs Report Statement of Financial Acts'vitses Balance Sheet Notes lo the Financial Statements 10t017 The sch1nzel￿led10n Syndrome Foundation Reference and Administrative Details Chairperson Dr Nuala Summerfield Trustees Carina Rudoltsson Emma Hudson Dana Bradley Ms Aleksandra Blagunovski 1186327 Charfty Reglstratlon Number Company Registration Number CE019577 The charity is incorporated in England. Lowfield Hall. Poles Lane Lowfield Heath Cra%￿eY RH11 OPX Registered Office Indopondont Examlner Gavin Femandes FCA. CTA MG Group (Professional ServicEsl Limited Chartered Accountsnts 166 College Road Harrow Middlesex HA1 1BH Page 1 The sch1nzel￿led10n Syndrome Foundation Trustees. Report Registered Charity Number." 1186327 Registered Charity Address". Lowfi'eld Hall, Poles Lane. Lowfield Heath, West Sussex. RH11 OPX, UK Trustee Names". Nuala Summerfield, Founder & Chair and interim Treasurer Emma Hudson, Secretsry (resigned 16 February 20251 Carina Rudolfsson, Social Media I￿signed 04 Febnjary 20251 Aleksandra Blagunovski, Fundraising Dana Bradley, Community Engagement & Clinical Research The Iruslees, who are directors for the purposes of company law, present the annual report together with the financial statements of the charitable company for the year ended 31 March 2025. Objectlves and a¢tlvltles Publlc benellt The trustees confirm that they have complied with the requirements of section 17 of the Charities Act 2011 to have due regard lo the public benefit guidance published by the Charity Commission for England and Wales. The Schinzel-Giedion Syndrome Foundation was established to represent children with Schinzel-Giedion Syndrome ISGSI and their families worldwide. The Foundab"on's mission is lo provide support lo families caring for a child with SGS, raise awareness of SGS. and facilitate and support scientific research. Our vision is for a future In which all children born with SGS will receive a rapid genetic diagnosis and have access to effective targeted therapies to ensure that they live longer. healthier and happier lives. The Foundation is run entirely by volunteer trustees. the majonty of whom a￿ parents of Children with SGS. https.'IlSgsfoundalion.orglboard￿f-lruSteesI The Trustee Board is sUPPOrted by an expert Scientific and Medical Advisory Board ISMABI composed of seven Individuals who are medical doctors and l or scientific researchers with relevant expertlse and experience, and who offer their lime to the Foundation voluntary capacity. http5'.Il$gsfoundation.orglxientific-andwrnedi¢al-advisory-boardl Page 2 The sch1nzel￿led10n Syndrome Foundation Trustees. Report Risk Statement In preparing the annual accounts, the Trustees have considered the major risks to which the charity is exposed and have satisfied themselves that appropriate systems and procedures are in place to manage those risks. The Trustees recognise that they have an ongoing resFX)nsibility to identify and manage the risks faced by the charity and have sought lo discharge this responsibility by". lal preparing a risk register which identifies the principal risks to the charity and sets out the actions tsken to mitigate each risk". and Ibl regulady reviewing the risk register at closed board meetings of the charity- The main financial risk faced by the charity is the potential for insufficient funds or cash-flow constraints, which could impact the charity's ability lo meet its commitments as they fall due. Reserves Policy The Trustees have estsblished a rese￿e$ policy to ensure the charity maintains sufficient unrestricted funds freely available lo meet ils obligations as they fall due and to safeguard the continuity of its aclivilies. Free reserves, defined as unreslricled funds exduding tangible fixed assets and designated funds, are held lo provide working capitsl, manage cash-flow fluclualions, and mitigate the impact of unforeseen events or delays in income, reflecting the variable nature of donalion-based funding. Having regard lo the charity's annual expenditure for the year ended 31 March 2025 and the risks identifi'ed in the Risk Register, the Trustees consider an appropriate level of free reserves lo be sufficient to cover al least six months of core operating costs, equivalent to approximately £30,000 - £35,000. The level of free reserves is monitored regulady through review of financial information and is formally reviewed at least annually, with appropriate action tsken where reserves fall outside the tsrgel range. A¢tl¥ltlo8 and A¢hlevom8nts Durlng the Year Famlly and Communlty Engagement The Foundation held three virtual SGS family meetings during the year, in April 2024. November 2024, and March 2025. Ml meetings induded live translation services lo encourage inclusive participation from families across the global SGS community. During the year, the Iruslees engaged a specialist social media company to support the charity's online presence on a paid basis. This decision was taken due lo limited internal capacity following the resignation of the Iruslee previously responsible for social media. and the role has not yel been replaced. The Iruslees consider the cost to be reasonable and proportionate. helping lo maintain community engagement and raise general awareness of Schinzel-Giedion Syndrome. Page 3 The sch1nzel￿led10n Syndrome Foundation Trustees. Report Scientific Engagement A virtual scientific rneeling was Convened during the year. bringing together an intemab'onal group of clinicians and researchers with an interest in SGS. The ffleeling provided updates on SGS Foundation initiatives and current SGS research projects and facilitated discussion to encourage future scientific collaboration. Research Activities Throughout the year, the Foundation supported and progressed mulb'ple international research initiatives spanning natural history, clinical care. and disease mechanisms, including the SGS Biorepository, Epigenelic Signature project, SGS Communicabon project, development of the SGS Standards of Care Guidelines, the Urinary Tract Anomalies Survey project, and the Lung Development and Function project. Publlcatlons International Expert Opinion on Stsndard of Care for Patsenls With Schinzel-Giedion Syndrome.. A Modified Delphi Sludy11122125) Fl$¢al Spon$orshlp The Foundation operates a fiscal sponsorship agreement with Rare Village Foundation, a Texas-based 501lcll31 organisalion, enabling US donors lo make tsx4eductible contributions in support of SGS-related actr'vitse& Plans for the Coming Year In the ¢oming year, the Foundation wll ¢ontinue to support ongoing ￿Search projects, with a particular focus on raising awareness of the recently published SGS Stsndards of ca￿ Guidelines and developing plain-language versions of these guidelines for families. The Foundation also plans to inibate additional research projects lo address important gaps in understsnding the lived expenence of individuals with SGS. These include a study exploring the patient and family journey following a cancer diagnosis in individuals with SGS, with a focus on the impact of managing cancer alongside an existing rare genetic condition. The Foundation will also support an SGS epilepsy phenotyping study lo better characlerise the types and frequency of seizures experienced by individuals with SGS. In parallel, the Foundation will work with Mayo Clinic lo support the development of a collaborative relationship aimed al enabling Mayo Clinic lo become an SGS Center of Excellence, strengthening clinical expertise and coordinated care for affected families. The Foundation will continue to prioritise family support, induding translation and inlerprelation services to ensure equitsble access lo infom)ation for families woddwide. Clinical trial readiness aclivib'es wll continue. particulady in relation to an antisense oligonucleolide IASOI therapy for SGS currently in development, led by McGill University, Monlreal. Expected publications includg: Schinzel-Giedion syndrome". communication, feeding and motor skills in 16 individuals A Plain Language Review of International Expert Opinion on Slandard of Care for Patients with Schinzel-Giedion Syndrome Single cell transcriptional consequences of leukaemogenic SETBP1 mutalion& Page 4 The sch1nzel￿led10n Syndrome Foundation Trustees. Report Financial instruments The trustees have considered the financial risks faced by the charity, induding cash flow, credit. and liquidity risks. The charity operates internationally and therefore holds and spends funds in more than one eurrency. The Iruslees manage this risk by keeping financial arrangements straighttorward and ensuring that funds are held with reputsble financial inslitulions. Credit risk is considered low, as the charity's income is largely received in cash and il does not rely on significant oulstsnding receivables. The trustees monitor cash balances regularly to ensu￿ that sufficient fvnds a￿ available lo meet ongoing commitments and to support future aclivilies. During the year ended 31 March 2025. the charity reported total income of £68.345 and lotsl expenditure of £64,185, resulting in a surplus of £4,160 for the year. While overall income was lower than the level projected in the annual budget, expenditure was carefulty controlled and aligned with available funds. The charity therefore continued lo deliver ils charitsble activities while maintaining financial stability. Total reserves increased lo £118,652 at the year end, providing a strong and sustainable financial position to support ongoing and future actsvitses. 2610112026 The annual report was approved by the trustees of the Charity on .........-....-..... and signed on its behalf by.. C)r Nuala Summerfield Chairperson Page 5 The sch1nzel￿led10n Syndrome Foundation Statement of Trustses, Responsibilities The Iruslees (who are also the direelors of The Schinzel-Giedion Syndrome Foundation for the purposes of company lawl are responsible for preparing the trustees, report and the finanual statements in accordance with applieable law and United Kingdom Accounting Standards (United Kingdom Generally Accepted Accounting Pracbcel, including FRS 102 "The Financial Reporting Standard applicable in the UK and Republic of Ireland" Company law requires the trustees lo prepare financial statements for each financial year. Under company law the Iruslees musl not approve the financial statements unless they are satisfied that they give a true and fair view of the slate of affairs of the charitable company and of the incoming resources and application of resources, induding ils income and expenditure, of the charitable company for that period. In preparing these financial statements, the Iwstees are required lo.. select suitable accounting policies and apply them consistenlly., obseNe the methods and principles in the Charities SORP". make judgements and esbmales that are reasonable and prudent.. slate whether applicable accounting standards, comprising FRS 102 have been followed, subject to any material departures disclosed and explained in the financial statements,. and prepare the financial statements on the going cOn￿M basis unless it is inappropriate to presume that the charitsble company will continue in business. The Iruslees are responsible for keeping proper accounting records that can disclose with reasonable accuracy al any time the financial position of the chantable company and enable them lo ensure that the financial slalemenls comply with the Companies Act 2006. They are also responsible for safeguarding the assets of the charitable company and hence for taking reasonable steps for the prevention and detection of fraud and other irregularities. The trustees are responsible for the maintenance and integrity of the corporate and financial information included on the charitable company's website. Legislabon goveming the preparation and dissemination of financial Statements may differ from legislation in other jurisdictions. 261ty112026 Approved by the trustees of the charity on .................... and signed on its behalf by.. Dr Nuala Summerfield Chairperson Page 6 The sch1nzel￿led10n Syndrome Foundation Independent Examinerfs Report to the trustees of The Schinzel-Giedion Syndrome Foundation I'the Company,) I report lo the charity trustees on my examination of the accounts of the Company for the year ended 31 Mareh 2025. Responsibllitles and basls of report As the chanty's trustees of the Company land also its directors for the purposes of company lawl you are responsible for the preparabon of the accounts in accordance with the requirements of the Companies Act 20061'the 2006 Act'i. Having satisfied myself that the accounts of the Company are not required to be audited under Part 16 of the 2006 Act and are eligible for independent examinatson. I report in respect of my examination of your charity's accounts as carried out under seclion 145 of the Charilies Act 2011 I'the 2011 Acl'l. In carrying out my examination I have followed the Direcb"on$ given by the Charity Commission under section 14515llbl of the 2011 Act. Indopendont examiner's statement I have completed my examination. I confim that no matters have come to my attention in connection with the examination giving me cause to believe.. 1. accounting records were not kept in respect of The Schinzel-Giedion Syndrome Foundation as required by section 386 of the 2006 Act". or 2. the accounts do not accord with those records.. or 3. the accounts do not comply with the accounting requirements of section 396 of the 2006 Act other than any requirement that the accounts give a 'lrue and fair view, which is not a matter considered as part of an independent examinabon", or 4. the accounts have not been prepared in accordance with the methods and principles of the Stslemenl of Recommended Practice for acc£*unting and reporting by charities lapplicable to charities preparing their accounts in accordance with Ihe Financial Reporting Standard applicable in the UK and Republic of Ireland IFRS 102}1. I have no concerns and have come across no other matters in connection with the examination to which attention should be drawn in this report in order to enable a proper understanding of the accounts lo be reached. Gavin Fernandes FCA, CTA MG Group (Professional Services) Limited Chartered Accountants 166 College Road Harrow Middlesex HA1 1BH Date.. Page 7 The sch1nzel￿led10n Syndrome Foundation ststement of Financial Activities for the Year Ended 31 March 2025 (Including Income and Expenditure Account and Ststement of Total Recognised Gains and Losses) Total 2025 Unrestricted Rgstricted Note Income and Endowrnents from: Donations and legacies 27.362 40,983 68,345 Total income 27.362 40.983 68.345 ExpendSture on: Charitable activities 29,988 34,197 64,185 Total expenditure 29,988 34,197 64,185 Net lexpendilurellincome Transfers be￿een funds 12.6261 27.538 6.786 27.538 4,160 Net movement in funds 130,1641 34.324 4,160 Reconclliatlon of funds Total funds brought forward Total funds carried fomard 86.525 27.967 114.492 10 56.361 Llnrestricted fund$ 62.291 Restrlctod funds 118.652 Total 2024 Notg Ineom8 and Endowments from: Donations and legacies Total income 1,197 85,503 84.306 1,197 85,503 Expendlture on: Chanlable activities 59.106 5.777 64.883 Total expenditure 59,106 5.777 64,883 Net incomellexpenditurel Transfers be￿een fvnds 25.200 14.5801 2.788 20,620 Net movement in funds 27.988 17.3681 20.620 Reconciliation of funds Total funds brought forward Total funds carried foN￿rd 58,537 35,335 93,872 10 86.525 27,967 114.492 All of the charity's activities derive from continuing operations during the al)ove t￿0 period5. The funds breakdown for 2024 is shown in note 10. The notes on pages 10 10 17 form an integral part of these financial statements. Page 8 The sch1nzel￿led10n Syndrome Foundation (Registration number: CE019577) Balance Sheet as at 31 March 2025 31 March 2025 31 March 2024 Note Current assets Debtors Cash at bank and in hand 62,312 57,360 56,324 59.188 119,672 115,512 Croditors: Amounts falling due within one yoar 1,020 1.020 Net assets 118.652 114,492 Funds ofthe charlty: Restrlcted Income fund$ Restricted funds 62,291 27,967 Unrestricted income funds Unreslricled funds 56,361 86,525 Total funds 10 118.652 114.492 For the financial year ending 31 March 2025 the Charity was enlitled to exemption from audit under $e¢tion 477 of the Companies Act 2006 relating to small ¢ompanies. Directors, responsibilities.. The members have not required the Charity to obtsin an audrt of its accounts for the year in quesb'on in aceordanee with section 476," and The directors acknowledge their responsibilities for complying wlh the requirements of the Act with respect lo accounting records and the preparation of accounls. The financial statements on pages 8 10 17 were approved by the trustees, and authorised for issue on and signed on their behalf by". Dr Nuala Surnrnerfield Chairperson The notes on pages 10 10 17 fonn an integral part of these financial statements. Page 9 The sch1nzel￿led10n Syndrome Foundation Notes to the Financial Ststements for the Year Ended 31 March 2025 1 Charlty status The charity Is limited by guarantee, incorporated in England, and consequently does not have share capital. Each of the trustees is liable to contn.bute an amount not exceeding £Nil towards the assets of the charity in the event of liquidab'on. The address of ils registered Offi￿ is". Lowfield Hall, Poles Lane Lowfield Heath Crawley RH11 OPX These financial statements were authorised for issue ty the trustees on .' 2 A¢¢ountlng pollcS0S Summary of significant accounting policies and key accounting estimates The principal accounting policies applied in the preparation of these financial statements are set out below. These policies have been consistently applied lo all the years presented, unless otherwise slated. statement of compliance The financial statements have been prepared in accordan￿ with Accounting and Reporting by Charities.. Statement of Re¢ommended Pra¢li¢e (applicable lo charities preparing their a¢¢ounls in a¢¢ordan¢e with the Financial Reporting Standard applicable in the UK and Republic of Ireland IFRS 10211 (issued in October 20191- (Charities SORP IFRS 10211, the Financial Reporting Standard applicable in the UK and Republic of Ireland IFRS 1021 and the Companies Act 20C6. Basls of preparatlon The Schinzel-Giedion Syndrome Foundation meets the definitson of a public benefit entity under FRS 102. Assets and liabilities are initially recognised at hisloncal cost or transaction value unless othe￿ise stated in the relevant a¢counbng policy note Golng Concern The trustees consider that there are no material uncertainties about the charity's ability lo continue as a going concem nor any significant areas of uncertainty that affect the carrying value of assets held by the charity. Income and endovmients All Income is recognised once the charity has enlidement lo the income, it is probable that the income will be received and the amount of the income receivable can be measured reliably. Page 10 The sch1nzel￿led10n Syndrome Foundation Notes to the Financial Ststements for the Year Ended 31 March 2025 Donations and legaciTes Donations are recognised when the charity has been notified in wrib.ng of both the amount and settlement dale. In the event that a donation is subject to condibons that require a level of performance by the charity before the charity is entided to the funds, the ineome is deferred and not recognised unb'l either those conditions are fully met. or the fulfilmenl of those Conditions is wholly within the control of the charity and il is probable that these conditions will be fulfilled in the ￿PortIng peri¢)d. Glfts In klnd The charity re￿IVeS donated goods and services, which are recognized at fair value when received and disdosed in the financial stslemenls in line with the Charities SOFA. These gifts are included in both income and expenditure, matching their usage in the charity's activities. Donated services and facilities The charity benefits from donated services and facilities, which are recognized al fair value when received. These are induded in both income and expenditure in line with the Charities SOFA. reflecting the contribution of these resources lo the charity's aclivilies. Expendlture All expenditure is recognised once there is a legal or constructive obligation lo that expenditure, it is probable settlement is required and the amount can be measured reliably. All costs are allocated lo the applicable expenditure heading that aggregate similar costs lo that category. Where costs cannot be directly attributed lo particular headings they have been allocated on a basis consislenl with the use of resources, with central staff costs allocated on the basis of lime spent. and depreciation charges allocated on the po￿.0￿ of the asset's use. Other support costs are allocated based on the spread of staff costs. Charltable actlvltles Charitable expenditure comprises those costs incurred by the charity in the delivery of its activities and services for its beneficiaries. It indudes both costs that can be allocated direcdy to such activities and those costs of an indirect nature necessary to support Ihem. Grant pmviT$ions Provisions for grants are made when the intenbon to make a grant has been communicated to the recipient but there is uncertainty about either the b.ming of the grant or the amount of grant payable. Support costs Support costs include central functions and have been allocated to activity cost categories on a basis consistent with the use of resources. for example. allocatsng property costs by floor areas, or per capita, staff costs by the lime spent and other costs by their usage. Page 11 The sch1nzel￿led10n Syndrome Foundation Notes to the Financial Ststements for the Year Ended 31 March 2025 Taxatlon The charity is considered to pass the tests set out in Paragraph 1 Schedule 6 of the Finance Act 2010 and therefore it meets the definition of a charitable company for UK corporation lax purposes. Accordingly, the charity is potentially exempt from taxation in respect of income or capital gains received within categories covered by Chapter 3 Part 11 of the Corporation Tax Act 2010 or Section 256 of the Taxation of Chargeable Gains Act 1992, to the extent that such income or gains are applied exdusively to charitable purposes. Trade debtors Trade debtors are amounts due from customers for merchandise sold or services performed in the ordinary course of business. Trade debtors are recognised inilialty at the transaction price. They are subsequently measured al amortised cost using the effective interest method, less provision for impairmenL A provision for the impairment of trade debtors is established when there is objective evidence that the charity will not be able to collect all amounts due according to the original temis of the receivables. Cash and cash •qulvalont$ Cash and cash equivalents comprise cash on hand and call deposits, and other short-term highly liquid investments that are readily convertible lo a known amount of cash and are subject lo an insignificant risk of change in value. Trade creditors Trade creditors are o￿lgationS to pay lor goods or serV￿eS that have been acquired in the ordinary course ol business from suppliers. Accounts payable are dassiffied as current liabilities if the charity does not have an unconditional right, al the end of the reporting period, to defer settlement of the creditor for al least twelve months after the repoth'ng date. If there is an unconditional right to defer settlement for al least ￿e1ve months after the reporting date, they are presented as non