CASK
RESEARCH FOUNDATION
End of
year
report
## Table of Contents
01 02
03
What is CASK This annual Meeting our legal What is CASK report - general requirements Research Foundation
04
04 05 06 Structure, Objectives and Achievments governance and activities and performance management
07
07 08 Financial review Public benefit statement
09 Plans for future periods
10
10 11 12 Signed stateent Your section Your section titles go here titles go here
## **Section 1**
## What is CASK?
**CASK is the name of a gene essential for healthy development of the brain. Mutations in this gene cause two disorders: 'MICPCH' and 'XL-ID with or without nystagmus'. To simplify things, we often use the term 'CASK' to describe either disorder.**
CASK gene mutations are ultra rare. The brain doesn't grow as it should, giving the child microcephaly (literally meaning 'small head'). Children with CASK can suffer from a multitude of problems, including intractable epilepsy, inability to feed or drink, inability to walk, low tone, poor balance, global developmental delay, vision and/or hearing loss.
## Who are CASK Research Foundation?
**CASK Research Foundation (or CRF) is a UK-wide Charitable Incorporated Organisation (CIO) registered with the Charity Commission in England and Wales.**
It was founded in 2022 by Laura Hattersley, BSc, MSc, who is the mother to a child with MICPCH. CRF commenced work as an organisation in March 2022, setting about to create an informative network, connect with researchers and clinicians, create annual family meet ups and fundraise in order to fund scientific research to accelerate the path to treatments.
.
Male infants with CASK generally pass away within the first few years of life. Females with CASK have an unknown prognosis but many are classed as having a life-limiting condition and rely on hospice care.
## **Section 2**
## This annual report
Most children with CASK cannot
communicate other than by crying, smiling or laughing. Caring for a child with CASK is exhausting since most suffer from sleep disturbances.
Many children with CASK cannot play independently due to the inability to control their limbs effectively. The children who are less medically complex can display challenging behaviours due to their low cognitive function.
This Annual Report explains our aims and how we have gone about achieving them. It has been prepared in accordance with the applicable legal requirements. It gives a balanced view of the charity’s structure, aims, objectives, activities and performance. Importantly, it describes our primary sources of funding, and describes how the money was spent.
It highlights the main activities we have undertaken.
.
## **Section 3**
## Meeting our legal requirements
Because our income lies between £25,000 and £250,000, we have prepared our accounts on a “Receipts and Payments” basis. This means that our accounts contain a statement summarising all money received and paid out in the financial year, and a statement of our assets and liabilities at the end of t **he year.**
The detailed legal requirements for this report are set out in The Charities (Accounts and Reports) Regulations 2008 which provide a legal underpinning for many of the recommendations made in the applicable Charities SORP.????
## **Section 4**
## Reference & administrative details
## **4.1. The Charity’s Name**
The Charity’s name is CASK Research Foundation
## **4.2. The Charity’s Registration**
## **Number**
The Charity’s number is 1197434
## **4.3. The Address of the Principal Office**
The Charity does not own any premises, but operates via a network from their own homes. The Charity’s formal legal contact is through the Chief Executive Director, whose name and address are as follows:
**Laura Hattersley**
The headings used in our report follow this guidance, as follows:
- Reference and administrative details; Structure, governance and management; Objectives and activities; Achievements and performance; A financial review; Funds held as custodian trustee on behalf of others;
**33 Finchdean Road, Rowlands Castle, Hampshire. PO9 6DA**
## **4.4 Names of Trustees**
Chief Executive Director Laura Hattersley, 33 Finchdean Road, PO9 6DA
- Public benefit statement.
Treasurer
Elizabeth Cook, 11 Reedsmere Walk, Comberbach, CW9 6BZ
Secretary Nicole Poole, 47 Elm Drive, Hove, BN3 7JA
Emily Richards, 16 Magdalen Drive, Evesham, 26/6/84
## **4.4 Cont.**
Grants advisor Rachel Manktelow, 71 New Wokingham Road, RG45 XXXXXX
Sarah Sanders, Cross at hand farm Cottage, Maidstone Rd, TN12 ORJ
Andrea Leforte, 12 Pitfold Avenue, Haslemere, Surrey, GU27 1PN
## **Section 6**
## Objectives & activities
## **6.1 The Purposes of the Charity**
CRF was formed in order to primarily accelerate research into CASK gene mutations and the associated conditions.
## **Section 5**
Structure, governance & management
## **5.1 Particulars of the Governing Document**
It is our mission to enable medical advances to improve the lives of people with CASK gene disorders
Our Vision: A world where people with a CASK gene mutation have treatments and ultimately a cure.
## **6.2 The Main Activities Undertaken**
Since our establishment, we have:
The Charity has a formal Constitution, which was approved by the Charity Commission in January 2022. The Charity is run by the Trustees, as a management committee. Any new Trustees will be appointed at the Charity’s Annual General Meeting,
The Charity operates by means of committee meetings, held on a videoconference basis. The minutes of the meeting are formally recorded by the Secretary.
- Created a Scientific Advisory Board of experts in the field of neurodevelopmental disorders Created a Research Review Committee
- Established CASK Coalition in partnership with Angelina CASK Neurological Research Foundation and Association Enfant CASK France Established the CASK Rare-X Data Collection Programme. This is an initiative delivered by Global Genes. We currently have over eighty patients registered internationally. Joined UK Rare Epilepsies Together (UKRET) network and attended a conference as a member of this network
- Liased with the charity Unique to enable the first ever disorder guide to be written for families.
## **6.2 Continued**
- Developed patient leaflets to raise awareness of CASK Created a website
- Raised over £25,000 in fundraising; Joined a charity mentoring programme led by Beacon; Facilitated a research study into a patient with a CASK gene mutation Held several webinars for the international community Assisted in the creation and promotion of CASK coalition's first annual fundraiser - CASK Race for Research Held a CASK family meet up Committed to the CURE CASK campaign Got the CASK gene included in the BINGO project
## **6.2.1 Created an SAB**
Our Scientific Advisory Board currently consists of:
- Dr Sam Amin - consultant paediatric neurologist
- Professor Kerstin Kutsche - Geneticist Dr Catherine Tuffrey - paediatrician
- We are hoping to continue to expand this board.
## **6.2.3 Founded CASK Coalition**
The CASK coalition was established in June 2023 in order to formalise the partnerships between three CASK research charities: CRF, Angelina CASK Neurological Research Foundation (Australia and USA) and Association Enfants CASK France. We hold shared aims and objectives and share workload and skills in order to improve efficiency.
## **6.2.4 RARE-X DCP**
The CASK RARE-X Data Collection Programme - a patient owned, free, secure, streamlined, international registry. We now have over eighty patients registered from 21 countries. See section 7.4 for more detailed information.
## **6.2.5 Joined UK RET**
UK Rare Epilepsies Togehter (UK RET) brings together like-minded charities and support groups in the UK to see how we might work more collaboratively to support rare and complex epilepsy communities on a national scale. CRF founder Laura attended the Rare Epilepsies Conference in March 2023.
## **6.2.6 Unique pamphlet**
## **6.2.2 Research Review Committee**
Our Research Review Committee advises us on funding proposals along with any member of the SAB who wishes to.
- Dr Lucy Robinson PhD - founder of Insight Editing (handed notice in January 2023)
The charity Unique provides speclialist information on rare chromosome and gene disorders. Following contact from our Director Unique created a pamphlet that parents can be directed to following diagnosis.
- Dr Jessica Tamamini (handed notice in January 2023)
- Dr Isabel Zwart - Director Regulatory CMC at AstraZeneca Magda Ellis ???
## **6.2.7 Family leaflets**
CRF's family leaflets on CASK have proven extremely popular (over twenty personalised pamphlets created) within the CASK community. We identified a need for some literature to educate their friends and families on their child's rare disease. We offer to personalise the leaflets with a photo of their child. We created these also for our CASK Coalition partners.
Flyers have also been created to go alongside fundraising pots as well as detailed fundraising booklets. All materials are created free of charge by our director using the CANVA professional software which is free for registered charities.
## **6.2.11 Facilitated a research study**
We were contacted by a foreign parent whose child has unusual and alarming symptoms. We share their story with Professor Kerstin Kutsche who was keen to study the case. The research is ongoing.
## **6.2.12 Webinars**
We have so far held three webinars for the international community: RARE-X and how this programme can benefit our community; UC Davis and X reactivation of X-linked genes; Kerstin Kutsche and the genetics of CASK including a Q&A.
## **6.2.13 Race for Research**
## **6.2.8 Created website**
The CRF website www.caskresearch.org delivers information to families and researchers. It was created by Laura Hattersley, CRF's director, in combination with a generous donation that allowed funding of a web developer to professionalise it.
## **6.2.9 Raised £xxxxx**
CRF have been fortunate to have been the recipients of many fundraising activities during 2022-2023. We have worked hard on fundraising campaigns and our social media prescence.
## **6.2.10 Beacon mentoring programme**
Our Director Laura is currently on the Beacon mentoring scheme and is being mentored by a business manager of the charity LifeArc.
As members of the CASK Coalition, we helped create a fundraising platform for an international fundraisier..
## **6.2.14 Family meet up**
We held a family meet up at Worcester Snoezelen in 2022 and in 2023 we have Camp Mohawk booked for September 9th.
## **6.2.15 CURE CASK**
Shortly after our creation we were contacted by ACNRF about a proposal from UC Davis. Their research aims to reactivate the CASK gene on the silenced X chromosome. The proposal was peer reviewed by four scientists with an understanding of either the CASK gene and/or the epigenetic technique/theory. These peer reviews were then read by our Research Review Committee who suggested to our Board that it was a project worth funding. This information was fed back to our partner organisations AECF and ACNRF. This culminated in the
## **6.2.15 CURE CASK cont.**
This culminated in the creation of a memorandum of understanding stating that CRF will raise awareness of this project and attempt to raise funds for it. The success of the fundraising project named CURE CASK will be re-evaluated on April 2024. We created a separate fundraising platform to identify funds a donor specifically wants to go towards this campaign.
## **6.2.16 BINGO project**
The BINGO project is run by the University of Cambridge. It brings together developments in genetics, psychology, and brain sciences. The researchers want to understand the range of problems that affect individuals with neurodevelopmental disorders, after a rare genetic cause has been found. They also want to understand how genetic differences affect brain function. In future, the information they gather might make it easier to support people with neurodevelopmental conditions, because they will have a better understanding of which patterns of difficulty are associated with each cause, and why these patterns of difficulty occur.
## **6.3 Statement of compliance**
The Trustees are in agreement that the CIO is public benefit entity, complying with the definition in FRS 102.
## **Section 7**
Achievements and performance
## **7.1 Our main mission and aim**
It is our mission to enable medical advances to improve the lives of people with CASK gene disorders. This is a long term goal and will take some time to accomplish. Whilst we have not achieved this mission at this early stage we are making good headway towards raising awareness within the scientific community and facilitating research.
Our aim is to accelerate research into CASK gene mutations and the associated conditions. We have achieved this aim this year (see 6.2.1; 6.2.11; 6.2.16) and have a number of potential or upcoming projects to build on this including:
- an upcoming meeting with Dr Kateaccurate information Baker, Cambridge University, on a CASK specific study
- meetings with Harvard/Boston's Childrens Hospital regarding our collaboration
- Meeting with Andrea Cerase on X- reactivation
- Increasing our registration numbers with RARE-X
- Building our own UK contact registry Potential PhD (funded by the Bristol University) into CASK gene disorders
## **7.2 Our mission to support and provide advice**
We have achieved this by:
- creating our informative website and keeping it updated
- Held a Family meet up day in 2022 with another planned in Sept 2023 Created and facilitated the creation of information guides (see 6.2.6 & 6.2.7) Held webinars (6.2.12) to help educate and inform parents and provide answers Created a map of UK families to reduce feeling of isolation and facilitate socialising.
## **7.3 Engaged Members**
Currently CRF does not have a formal ‘membership’ structure for the charity and uses polls on the UK Facebook support group to communicate
In the next 12 months we want to create a formal 'free' membership system with can act as a simple registry in order to collect more accurate and trusted data on UK disease prevalence as well as creating an additional mailing list to our Mailchimp newsletter.
**153**
mailchimp subscribers
**70%**
Average opening rate for monthly newsletter **33**
No. of UK patients, based on Facebook poll by CRF
**82** international members of the DCP
## **7.3.1 Mailchimp**
The Mailchimp account was created in June 2022. We now have 153 subscribers. We send out a monthly newsletter. This has an average opening rate of 70.1% Based on information from Mailmodo (https://www.mailmodo.com/guides/mailc himp-open-rate/), 21% is a good opening rate for a newsletter.
## **7.4 RARE-X DCP**
## Readers appreciate accurate information
The CASK RARE-X Data Collection Programme was officially lauched in early September 2022. We now have over 80 participants signed up and answering surveys.
The registry is international and, although currently in English, RARE-X are rolling out more languages. This will enable us to focus on countries where data is lacking such as Germany and Spain.
## **7.4.1 Patient enrollment increases when we do a big social media drive** accurate information **or directly contact parents.**
RARE-X held the Open Science Data Challenge which launched in May 2023. Initially there was a deadline of December to register onto the DCP. We promoted this deadline and successfully got 11 more patients enrolled. An extended deadline was then given for February 28th, which we again promoted on social media, leading to 13 more enrollments. In April we contacted a large number of families and asked them to register - this led to 11 more families.
We will be holding a webinar in September 2023 on our findings from the DCP and will use this as our next big deadline to try and reach 100 families. UK families currently stand at 17, which is 50% of known families. We have found that by having a successful registry we garnering interest from researchers.
**Our social media campaigns have had international reach with patients from 21 countries enrolled**
## **7.4.2 Data obtained**
Only verified researchers and clinicians are able to gain access to the entire set sets. As a PAG leader and having completed the CITI compliance training our Director Laura hasReaders appreciate accurate information access to basic data sets that are sporadically delivered out by RARE-X. Even this simple data provides the opportunity to help improve patient care, educate and facilitate advocacy on behalf of ones child.
## **Example 1: Question from a parent on a Facebook group**
"We had an appointment yesterday with XXs genetic doctor and he’s asked me if all/most our kids have Microcephaly and are below the average weight Centile for their age? Are any of our cask kids on any kind of steroids for their growth hormones as he is really wanting XX to start them but I am still in two minds."
Rather than relying on Facebook and reporting unverified information back to a clinician, this parent could now show their geneticist this table of offical results from 36 respondents.
## **Example 2: Epilepsy incidence**
"The published prevalence of epilepsy is as high as 50% (cohort of 34)*1. Our current findings show a lower prevalence. A larger data set, properly analysed, will help us understand occurence rates better.
Section 8
Financial
Review
## **Section 9**
## Funds held as custodian trustee on behalf of others
## **Section 11** Plans for the future period
Although only larger charities subject to statutory audit are required to provide details of plans for future periods, we have nevertheless set out that we wish to undertake the following activities in the financial year 2023/24:
CRF does not hold any assets in respect of other charities.
- Create a UK contact and demographic registry
## **Section 10**
## Public benefit statement
We believe we have complied with the duty to have due regard to the guidance on public benefit published by the commission in exercising their powers or duties.
- Create a global roadmap in collaboration with the other members of the CASK Coalition
- Fund a UK research project
- Continue to raise funds;
- Apply to the Charities Commission to enable the charity to act as advocates between families and medical professionals;
- Develop a fundraising and awareness video for the website and use on social media;
- Continue to create contacts with researchers within the UK and EuropeReaders appreciate accurate information
- Have the RARE-X data analysed and published
## **References**
1.
## We thank you for your ongoing support of our programme
## Ref 1 https://pubmed.ncbi.nlm.nih.gov/33640666/
## **Acknowledgements**
Many thanks to the following people who made this report possible and who have assisted the projects mentioned.
Our **SAB** , for guidance and support and exploring/creating research avenues
Our **Research Review Committee,** past and present, for ensuring we only support the most suitable and scientifically thorough projects
**Liz Cook** for writing the Financial Report and doing the accounts
The **Trustees** for being a sounding board, providing momentum, advice and guidance
**Renee Roquet** for helping to promote our projects, in particular the RARE-X DCP
Our **colleagues** from AECF and ACNRF
Your **contributors**
**CASK Research Foundation** 33 Finchdean Road Rowlands Castle PO9 6DA www.caskresearch.org info@caskresearch.org
||**Charity Name**
**CASK Research Foundation**
|**Charity Name**
**CASK Research Foundation**
|**Charity Name**
**CASK Research Foundation**
|**No (if any)**
**1197434**|
|---|---|---|---|---|
||**For the period**
**from**|Period start date
1/11/2022|**To**
|Period end date
3/31/2023|
## **Section A Receipts and payments**
|**Section A Receipts and payments**|||||
|---|---|---|---|---|
|**A1 Receipts**
Donations
639
Donations - Fayres
2,590
Donations - PayPal
10,938
Donations - Facebook
2,176
Donations - Amazon
117
Donations - Sponsored events
1,904
Donations - Bingo
1,624
Donations - Coffee morning
728
Donations - Advent Trail
1,498
Donations - CAF
1,269
Donations - Open Gardens
850
**-**
**24,333**
**-**
**-**
**_Sub total_ -**
**_Total receipts_ 24,333**
**A3 Payments**
Cost of Sales
324
CASK Meet ups
-
Licenses and Permits
40
Miscellaneous
4
Advertising and Promotion
186
Legal and Professional Fees
220
Subscriptions
82
Bank/Finance Charges
23
Insurance
96
**_Sub total_ 975**
**-**
**-**
**_Sub total_ -**
**_Total payments_ 975**
**_Net of receipts/(payments)_ 23,358**
**A5 Transfers between funds**
**-**
**A6 Cash funds last year end**
**-**
**_Cash funds this year end_ 23,358**
**Unrestricted**
**funds**
**to the nearest £**
**_Sub total_**_(Gross income for AR)_
**A2 Asset and investment sales,**
**(see table).**
**A4 Asset and investment**
**purchases, (see table)**|**to the nearest £**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**Restricted**
**funds**|**to the nearest £**
**Endowment**
**funds**|**Total funds**
**to the nearest £**
**639**
**2,590**
**10,938**
**2,176**
**117**
**1,904**
**1,624**
**728**
**1,498**
**1,269**
**850**
**-**
**24,333**
**-**
**-**
**-**
**24,333**
**324**
**-**
**40**
**4**
**186**
**220**
**82**
**23**
**96**
**975**
**-**
**-**
**-**
**975**
**23,358**
**-**
**-**
**23,358**|**Last year**
**to the nearest £**|
|||**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**|**639**|**-**|
||||**2,590**|**-**|
||||**10,938**|**-**|
||||**2,176**|**-**|
||||**117**|**-**|
||||**1,904**|**-**|
||||**1,624**|**-**|
||||**728**||
||||**1,498**||
||||**1,269**||
||||**850**||
||||**-**|**-**|
||||**24,333**|**-**|
||||||
|||**-**
**-**
**-**|**-**||
||||**-**|**-**|
||||**-**|**-**|
||||||
|||**-**|**24,333**|**-**|
||||||
|||**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**|**324**|**-**|
||||**-**|**-**|
||||**40**|**-**|
||||**4**|**-**|
||||**186**|**-**|
||||**220**|**-**|
||||**82**|**-**|
||||**23**|**-**|
||||**96**|**-**|
||||**975**|**-**|
||||||
|||**-**
**-**
**-**|**-**||
||||**-**||
||||**-**|**-**|
||||||
|||**-**|**975**|**-**|
||||||
||**-**|**-**
**-**
**-**
**-**|**23,358**|**-**|
||**-**||**-**|**-**|
||**-**||**-**|**-**|
||**-**||**23,358**|**-**|
## **Section B Statement of assets and liabilities at the end of the period**
|**Categories**
**B1 Cash funds**
**B2 Other monetary assets**
**B3 Investment assets**
**B5 Liabilities**
**B4 Assets retained for the**
**charity’s own use**
Signed by one or two trustees on
behalf of all the trustees|**Details**
Natwest Bank
Paypal
**Details**
**Details**
**Details**
**Details**
Signature
**_Total cash funds_**
(agree balances with receipts and payments
account(s))|**to nearest £**
**to nearest £**
**23,176**
**-**
**182**
**-**
**-**
**-**
**23,358**
**-**
OK
OK
**to nearest £**
**to nearest £**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**Cost (optional)**
**-**
**-**
**-**
**-**
**-**
**Cost (optional)**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
**-**
Print Name
Elizabeth Anne Cook
Laura Elizabeth Hattersley
**Unrestricted**
**funds**
**Restricted**
**funds**
**Unrestricted**
**funds**
**Restricted**
**funds**
**Fund to which**
**asset belongs**
**Fund to which**
**asset belongs**
**Fund to which**
**liability relates**
**Amount due**
**(optional)**|**to nearest £**
**Endowment**
**funds**|
|---|---|---|---|
||||**-**|
||||**-**|
||||**-**|
||||**-**|
||||OK|
||||**to nearest £**
**Endowment**
**funds**|
||||**-**|
||||**-**|
||||**-**|
||||**-**|
||||**-**|
||||**-**|
||||**Current value**
**(optional)**|
||||**-**|
||||**-**|
||||**-**|
||||**-**|
||||**-**|
||||**Current value**
**(optional)**|
||||**-**|
||||**-**|
||||**-**|
||||**-**|
||||**-**|
||||**-**|
||||**-**|
||||**-**|
||||**-**|
||||**When due**
**(optional)**|
|||||
|||||
|||||
|||||
|||||
|||||
||||Date of
approval|
|||Elizabeth Anne Cook|6/10/2023|
|||Laura Elizabeth Hattersley||