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Studies


ENTRAIN study

STUDY PROVIDING DIRECT INDIVIDUAL BENEFIT, DOUBLE BLIND VERSUS PLACEBO, EVALUATING THE ACTIVITY OF FOLININC ACID IN YOUNG CHILDREN SUFFERING FROM TRISOMY 21 (DOWN'S SYNDROME).
STUDY PROVIDING DIRECT INDIVIDUAL BENEFIT.
Co-ordinator : Professor Marie-Odile RETHORE (PARIS) - Location : Jérôme Lejeune Medical Centre.
This study is intended to evaluate the activity of a medicine, folinic acid, administered for a year to children suffering from Trisomy 21 to improve their learning and development. The age of the infants is between 3 and 30 months on the first day of the study. 100 patients are included in this study.
Folinic acid is often prescribed to children and to adults, but for other diseases. It is well tolerated and many trisomic children who have been administered it have tolerated it well. In order to be able to objectively judge the effectiveness of the product, it is necessary for the treatment administered to the child to be drawn at random : the child is administered either folinic acid, or a product having exactly the same appearance, but which is completely neutral, possessing no pharmacological activity.
This test has been submitted to the ethics committee (CCPPRB) and has been the subject of statements by the health authorities and other bodies (French Ministry of Health, CNIL, etc.). It has also been audited by PRA International, an independent auditing firm specialised in clinical testing.


To participate (Information) :Doctor Henri BLÉHAUT
Jérôme Lejeune Medical Centre
Tel : +33 (0)1 53 64 73 60
+33 (0)6 14 12 51 17.

TRAFAO study

CONTROLLED DOUBLE BLIND RANDOM TEST ON THE EFFECT OF SUPPLEMENTATION WITH AN ANTI-OXIDANT AND FOLINIC ACID ON THE DEVELOPMENT, GROWTH AND HEALTH OF CHILDREN SUFFERING FROM TRISOMY 21.
THIS STUDY IS OF DIRECT INDIVIDUAL BENEFIT.
Co-ordinator : Professor Lucien ISRAEL (PARIS) – Location : Jérôme Lejeune Medical Centre.
The purpose of the test is to evaluate, under double blind conditions, the activity of folinic acid and/or an anti-oxidant treatment on the cognitive functions, growth and health of young children suffering from Trisomy 21. This study, which is currently being prepared, will be performed on 4 groups of patients aged between 0 and 6 months at the beginning of the test : one group will be treated with folinic acid, one group with anti-oxidant, one group with a combination of the two treatments and one group with a placebo. 100 patients suffering from Trisomy 21 in France will be included in this international study.


To participate (Information) :Doctor Henri BLÉHAUT
Jérôme Lejeune Medical Centre
Tel : +33 (0)1 53 64 73 60.

COFAC study

2-MONTH DOUBLE BLIND CROSSED TEST VERSUS PLACEBO, TO EVALUATE THE ACTIVITY OF FOLINIC ACID ON THE BEHAVIOUR OF HYPERACTIVE YOUNG PATIENTS SUFFERING FROM TRISOMY 21.
STUDY PROVIDING DIRECT INDIVIDUAL BENEFIT.
Co-ordinator : Doctor Clotilde MIRCHER (PARIS) – Location : Jérôme Lejeune Medical Centre.
This clinical test, currently being prepared, is aimed at children suffering from Trisomy 21 between 5 and 11 years of age, and exhibiting motor-hyperactivity. It will study the activity of folinic acid administered over 4 weeks. Each patient will be treated for two months, one month with folinic acid followed by one month with a placebo or one month with the placebo followed by one month with folinic acid. It will include 50 patients who will be monitored by telephone using the Conners special assessment scale.


To participate (Information) :Doctor Henri BLÉHAUT
Jérôme Lejeune Medical Centre
Tel : +33 (0)1 53 64 73 60.

TEDDI study

6-MONTH DOUBLE BLIND VERSUS PLACEBO STUDY, TO EVALUATE THE ACTIVITY OF DONEPEZIL ON THE BEHAVIOUR AND COGNITIVE FUNCTIONS OF YOUNG ADULTS SUFFERING FROM TRISOMY 21.
STUDY PROVIDING DIRECT INDIVIDUAL BENEFIT.
Co-ordinator : Professor Marie-Odile RETHORÉ (PARIS) – Location : Jérôme Lejeune Medical Centre . The main objective of this test is to evaluate under double blind versus placebo conditions, the activity of Donepezil on the behaviour of cognitive functions in young adults between 18 and 40 years of age, suffering from Trisomy 21. Donepezil is a medicine habitually used in the treatment of Alzheimer's disease. Its role is to economise acetykcholine, which is precisely deficient in Trisomy 21. The effectiveness of the treatment will be evaluated using suitable psychometric scales. the test will last 6 months per patient, and it is intended to include 100 patients who will be monitored regularly, either by their general practitioner or at the Jérôme Lejeune Medical Centre.

To participate (Information) :Doctor Henri BLÉHAUT
Jérôme Lejeune Medical Centre
Tel : +33 (0)1 53 64 73 60.

NICOLAS study

CELLULAR CHARACTERISATION OF REACTIONS DEPENDENT ON FOLATES AND COBALAMINES IN PATIENTS SUFFERING FROM TRISOMY 21.
Co-ordinator : Professor Jean-Pierre NICOLAS (NANCY) – Location : Jérôme Lejeune Medical Centre.
Since there is a metabolic disorder of the folates in Trisomy 21, this study is intended to gather information on this disorder and to evaluate the relative role of each enzyme in this metabolism, in particular on the higher functions. This study, conducted on adult patients and their mothers, includes a single examination with psychometric evaluation and blood test. 160 patients and 160 mothers are included in this study which will soon be complete.


To participate (Information) :Doctor Henri BLÉHAUT
Jérôme Lejeune Medical Centre
Tel: +33 (0)1 45 45 55 56.


TROPHEE study

« TROPHEE » EPIDEMIOLOGICAL STUDY : STRESS OXIDANT AND CATARACT IN TRISOMY 21
Co-ordinator : Doctor Cécile DELCOURT (MONTPELLIER) – Location : Jérôme Lejeune Medical Centre.
In Trisomy 21, there are disorders of the oxidative metabolism in relation to the presence of the SOD1 (dismutase superoxide) gene on chromosome 21 which plays an important role in this metabolism. The purpose of this study is to assess the impact of these anomalies on ophthalmic disorders (cataract) very often observed in Trisomy 21 and which are favoured by oxidative metabolism disorders. This study could lead to the introduction of a treatment to prevent the appearance of ophthalmic disorders. Patients agreeing to take part in this study will undergo an examination Jérôme Lejeune Medical centre (including a psychometric evaluation and blood test) and an eye test with their own ophthalmologist. A total of 500 patients will take part in this research study, which has been approved by the ethics committee (CCPPRB).


To participate (Information) :Doctor Henri BLÉHAUT
Jérôme Lejeune Medical Centre
Tel : +33(0)1 45 45 55 56.

DULAC study

AUTISTIC SYMPTOMS IN YOUNG PATIENTS SUFFERING FROM TRISOMY 21 AND EPILEPSY
Co-ordinator : Professor Olivier DULAC (PARIS) – Location : Jérôme Lejeune Medical Centre.
This study is intended to evaluate, in Trisomy 21, the effect of nodding spasms, a type of epilepsy particular to young children, on the autistic symptoms in Trisomy 21. It should lead to recommendations to paediatricians concerning the detection of nodding spasms. This study is almost complete.


To participate (Information) :Doctor Henri BLÉHAUT
Jérôme Lejeune Medical Centre
Tel : +33 (0)1 53 64 73 60.

SATGÉ study

SURVEY INTO THE WAY OF LIFE OF PATIENTS SUFFERING FROM TRISOMY 21.
(Carcinogenic risk factors approach)
Co-ordinator : Professor Annie SASCO (LYON) – Location : Jérôme Lejeune Medical Centre.
This survey on the way of life of patients suffering from Trisomy 21 should provide an understanding of certain carcinogenic risk factors specific to this population. This study concerns adult Trisomy 21 patients having exhibited carcinogenic lesions. The study is due to begin in a few months time.

To participate (Information) :Doctor Henri BLÉHAUT
Centre Médical Jérôme Lejeune
Tel : +33(0)1 45 45 55 56.

TREFHOR study

HORMONAL ADAPTATION IN ADOLESCENTS SUFFERING FROM TRISOMY 21 IN RESPONSE TO ACUTE PHYSICAL EXERCISE LIABLE TO INDUCE OXIDANT STRESS
Co-ordinator : Doctor Anne FAVRE-JUVIN (GRENOBLE) - Location : Grenoble CHU.
The study of hormonal dosage during physical exercise should help to detect certain hormonal disorders in Trisomy 21, to better understand their mechanisms and, perhaps, to prevent them in order to avoid their long term effects. The study is aimed at the 13 to 18-year old age group and their brothers and sisters in the same age group ; it involves their active participation for a day to perform standard physical exercise tests and a blood test.

To participate (Information) :Doctor Henri BLÉHAUT
Jérôme Lejeune Medical Centre
Tel : +33(0)1 45 45 55 56.

INTREPID study

NATIONAL SURVEY ON TRISOMY 21
Co-ordinator : Doctor Henri BLÉHAUT (PARIS) – Location : Jérôme Lejeune Foundation.
There is no major study concerning Trisomy 21 in France. This study is therefore intended to study this disease in France, to perform cross-checks in order to determine favouring factors and to collect blood samples to try to understand why certain patients tolerate their Trisomy 21 better than others. The study of this last point, which was not possible without the recent advances in genetics, could lead to totally new therapeutic approaches.

To participate (Information) :Doctor Henri BLÉHAUT
Jérôme Lejeune Medical Centre
Tel : +33 (0)1 53 64 73 60.

RMLX study

CLINICAL AND MOLECULAR DIAGNOSES OF MENTAL DEFICIENCIES ASSOCIATED WITH THE X CHROMOSOME :
SEARCH FOR CLINICAL FACTORS ENABLING A TARGETED GENETIC DIAGNOSIS
Co-ordinators : Doctors Vincent DES PORTES et Jamel CHELLY (PARIS) – Location : Jérôme Lejeune Medical Centre and Hospital Saint Vincent de Paul.
This study is intended to study the clinical signs of certain patients suffering from mental deficiency associated with the X chromosome, and which cannot be routinely detected today. A knowledge of specific clinical signs would provide an orientation for molecular genetic diagnosis and make it available to all patients who need it.


To participate (Information) :Doctor Henri BLÉHAUT
Jérôme Lejeune Medical Centre
Tel : +33(0)1 45 45 55 56.