💬In plain words
What the trial is, and whether it could suit you
Background:
CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age. They include changes in how a person sees, thinks, and moves. CLN3 can also cause seizures. No effective treatments for the disease are yet known. There is limited testing of potential therapies. Researchers want to study CLN3 more so they can improve future therapies.
Objective:
To identify clinical or biochemical markers that can be used as therapeutic outcome measures for CLN3.
Eligibility:
People with CLN3. It must be based on
Two CLN3 mutations OR
One CLN3 mutation AND findings seen with a powerful microscope
Family members of a person with CLN3.
Design:
Participants will have already been referred to NIH for CLN3 evaluation.
If participants agree to do the study, they will:
Sign in to get the eligibility rules as simple questions to take to your doctor.
📋 Eligibility rules (as published)
* INCLUSION CRITERIA:
For the Main and Sub-Studies, participants \> 1 week of age, of all genders, demographics, geographic locations, and disease severity will be recruited in order to obtain cross-sectional representation of CLN3-related conditions (Main and Sub-Studies) or all NCLs (Sub-Study B). Participants in the Main study will be followed at approximately yearly intervals to obtain longitudinal data. Participants in Sub-Study A may elect to send in medical records and samples only, or to come to the NIH for evaluations as outlined in Section 4. We anticipate that
participants in Sub-Study B will be seen mostly at NCL/CLN3-related family conferences.
Main Study:
Individuals \> 1 week of age with a diagnosis of CLN3 or a CLN3-related/other NCL-type condition. Diagnosis determined by one of the following:
1. Two CLN3 or NCL condition-appropriate genetic mutations
2. One CLN3 mutation AND
i) clinical presentation suggestive of CLN3, OR
ii) characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits).
Sub-Study A:
Individuals \> 1 week of age with a diagnosis of CLN3 or CLN3-related/other NCL-type condition. Diagnosis determined by one of the following:
1. Two CLN3 or condition-appropriate genetic mutations
2. One CLN3 mutation AND
i) clinical presentation suggestive of CLN3, OR
ii) characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits).
OR
Individuals \> 1 month of age who have family member(s) diagnosed with CLN3 or CLN3-related/other NCL-type condition.
Sub-Study B:
Individuals \> 1 week of age with a clinical diagnosis of CLN3 or NCL.
OR
Individuals \> 1 month of age who have family member(s) diagnosed with CLN3 or NCL.
EXCLUSION CRITERIA:
Main Study:
1. Individuals who cannot travel to the NIH because of their medical condition.
2. Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation.
3. Females who are pregnant.
Sub-Studies A and B:
1. Unaffected individuals \> 18 years of age who have cognitive impairments.
2. Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation.
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