Welcome FRRS1L Families

We are a community of FRRS1L Families working together to find a cure for our kids!

News and Updates

  • Oct. 18, 2023 - FRRS1L Family Call with Research Team

    We want to thank everyone again that was able to get on our family update call back on Oct. 18th. For those who were unable to attend the meeting please go to the following link to watch the presentation: video1029275823.mp4

    In that meeting the Research team discussed the importance of every family participating in the clinical retro-spective natural history study by filling out the survey, and providing MRI data, EEG data, and any doctor visit notes (this is not the gene therapy trial, it is data gathering for the research work we need to give the FDA). As stated in the video, this piece of the research work is JUST AS IMPORTANT! We have to have this info to get approval from the FDA to pursue a clinical study on children. So please please please make this a priority and submit your information. Below is a chart to help you know all the steps in the data gathering. If you have any questions, or have not been contacted by Kristen then please email her directly here: Kristen.Haigh@utsouthwestern.edu. If you are new to the group (which we are always getting new families contacting us) then please message Kristen saying you would like to begin the research data gathering process.

    The below list may feel like a lot, but this is a critical piece of getting eventually to clinical trials. We will not be able to move forward without all the below data. Kristen is a great help, so if you have questions or are unsure where you are in the process, please reach out to her. She can tell you what steps you need to do next.

    Thank you for participating in this process. We are doing this for our own children, each other's children, as well as future FRRS1L children.

    Checklist for Research Data gathering:

    1. SURVEY: Fill out survey/complete survey and attach documents including

    - Some of you have started the survey but not completed it. Please complete it as soon as you can.

    - documents to attach are clinical notes from any doctor visits over the years; EEG summary notes; genetic testing report, anything from your child's medical history

    2. SCHEDULE CONSENT MEETING: You need to schedule a consent meeting with Kristen. LEgally Kristen is required to do an online meeting to walk you through the consent process for UTSW to collect your MRI and EEG images, as well as to do an interview. Please get this scheduled.

    3. SIGN CONSENT FORM: After the meeting with Kristen where she walks through the consent form, you need to actually print, sign, and return the consent form. This must be completed to move forward.

    4. SUBMIT MRI and EEG images: UTSW will provide a mailing label pre-paid (no cost to you) to mail your MRI images and EEG images to UTSW. Some hospitals let you send it online or they can provide it via disc. We need all MRI and EEG images (not summaries, but actual images). You will have to contact the hospitals to get the information, UTSW will not contact the hospital.

    5. UPLOAD VIDEO AND IMAGES: UTSW will provide a link to a folder where you can upload any and all videos of your child that show them aspects of your child's regression and current health and abilities (examples: before and after videos, absence seizures, therapy videos, anything to help them understand your child and FRRS1L affects).

    6. SCHEDULE INTERVIEW: Kristen will be contacting you to schedule an online interview with Kristen and Dr. Talai. This is to gather data on your child.

    7. INTERVIEW: This will be an online interview with Kristen and Dr. Talai to gather final data on your child. This is for them to understand fully how FRRS1L affects your child. This will help provide the last data needed to produce the paper on FRRS1L that we will use to submit to the FDA.

  • April 8, 2022- Request for Gene information

    UT Southwestern would like us to collect from each FRRS1L child their individual gene information. Please email your information to frrs1lcommunication@gmail.com.

  • March 25, 2022- Preparing for Data Call

    UT Southwestern Research Team informed the FRRS1L families that they will be doing a request for clinical information soon. They asked all FRRS1L families to start gathering information from their FRRS1L children’s medical providers (doctors, hospitals, etc). They specifically want clinical notes, MRI notes/summaries, and EEG readings. The data to be collected is from birth to present for each child. Please gather your information in Digital form. Once the research team is ready they will provide a link for families to upload the digital information.

  • March 25, 2022- UT Southwestern FRRS1L Family Zoom Call

    On March 25, 2022, the UT Southwestern research team and Dr. Minassian held an informaitonal zoom call with FRRS1L families. A recording of that call is available at the following link: https://drive.google.com/file/d/1bHQYJzk4qkuMmLq2fpynIXXY_GQ84ffg/view?usp=sharing

Current Status:

  • Getting agreements/documentation/processes in place between Finding Hope for FRRS1L and UT Southwestern

  • Natural History Study: families to prepare for upcoming data call for all clinical data on FRRS1L children

  • Gene Therapy Process: In pre-clinical phase

See below for full description of the project and processes.

Gene Replacement Therapy Project with UT Southwestern

There are two pieces to the project with UT Southwestern, that are being worked on simultaneously.

  1. Past Clinical Data Collection/Natural History Study: This piece of the project is focused on researching FRRS1L as it presents in FRRS1L genetic disorder children. The research is based on the collection of past clinical data from the families of children with FRSS1L. This research acts like a natural history study of FRRS1L. The purpose of this research is to develop and publish a report that will then be used as part of the process to aid the lab research work (or 2nd piece of the project) when they have to submit information to the US government FDA for approval to do clinical trials. This piece of the project will be conducted by two team members at UT Southwestern: Afsaneh Talai, MD, Pediatric Neurologist; and by Souad Messahel, PhD, Research Program Manager.

    Logistics Process: 1. Agreements set up between external organizations; 2. Submit protocol to IRB for approval, UTSW; 3. Consent to participate in this study; 4. Data acquisition from families; 5. Data Analysis and Statistics; 6. Data sharing and publications.

    Timelines: Contracts/Budgets (4-12 weeks); IRB Approval (2-4 weeks); Collection of samples and data (12-16 weeks); Data Analysis (3-4 weeks); Publications/ IND submission (6 weeks). (Dates approximate)

  2. Gene therapy process/Lab pre-clinical work: This piece of the project is the actual research and development of gene replacement therapy. This is being led by Dr. Minassian.

    (The following is a description of the process provided by UT Southwestern).

    There are 4 major phases required to develop and move a new drug or technology through the completion of initial human testing: 1) Pre-Clinical Phase, 2) Toxicology Study Phase, 3) Trial Preparation Phase, and 4) ClinicalTrial Phase. It is important to understand that if one phase is not scientifically successful, then the next phase is not able to begin as prescribed. Each phase has different scientific and financial requirements, but all are equally important. Below outlines typical costs and timelines that might be expected with the development of a novel gene therapy treatment at UTSouthwestern.

    1. Pre-Clinical Phase(12-24 months): This is the beginning phase of any new research to develop a potential new drug or technology. The technology is first tested in a cell and/or animal model of the disease in question to see if the new “drug,”or “intervention,”can successfully treat the disease. Sometimes animal models already exist for a disease, but sometimes the animal models need to be created. This can affect the time and cost of this phase. Following success of this Phase, one would typically engage the FDA for guidance about moving towards a human clinical trial.

    2. Toxicology Study Phase (6-9 months): If the Pre-Clinical Phase shows positive results, then the Toxicology Study Phase is initiated to formally test the safety of the intervention. This phase tests the intervention to see if it has any toxic effects.

    3. Trial Preparation Phase: Once laboratory and animal testing of the intervention predicts a safe, effective treatment, extensive preparation is needed before the “investigational new drug” (IND) is tested in humans for the first time. In addition to the preparation of regulatory documents and trial setup, the major component of this preparation involves manufacturing the “drug” at a quality and amount suitable for human testing. UTSW has the capability to manufacture a gene therapy drug in house on a non-profit basis.

    4. Clinical Trial Phase (12-36 months): If the preceding phases are all successful, an application can be filed with the FDA and other regulatory oversight bodies to start a human clinical trial.The FDA may require that more Pre-Clinical or Toxicology studies be performed. If the FDA approves a clinical trial to start, the length of the trial and cost can be highly variable depending on the number of participants required and what outcomes are being followed. This tends to differ depending on what the disorder is.

      Please note the following: If all goes well and a clinical trial were to begin, clinical trial protocols have strict inclusion/exclusion criteria, so there is no guarantee that a particular patient will be able to participate in a study.

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