Clinical case 14
Disease stabilisation and improved motor function in ALS
woman, 46 · Italy
Patient record
- Patient
- woman, 46
- Country
- Italy
- Diagnosis
- amyotrophic lateral sclerosis (ALS), predominantly with motor onset in the legs
- Main features before treatment
- marked weakness of the left leg, less marked weakness of the right leg, a steppage gait, restricted walking distance, the need for additional support, fasciculations, marked fatigue and reduced physical endurance
- Treatment given
- an individual autologous cell, immunoregulatory and neuroregenerative programme
- Course after treatment
- the previous clinical progression stopped, increased strength in the limbs and a marked rise in physical endurance
History
Before the illness began, the patient led an active life, took part in various sports and was fully independent.
The first features appeared in 2024. She initially began to notice occasional cramps in the left foot, and then difficulty moving the toes and dorsiflexing the left foot. A marked foot drop gradually developed, she began to trip and her walking started to deteriorate.
The weakness later spread proximally in the left leg and then began to appear on the right as well.
Electromyography showed widespread neurogenic involvement with signs of ongoing denervation and fasciculations. Clinical and electrophysiological findings subsequently confirmed a diagnosis of motor neurone disease – amyotrophic lateral sclerosis.
Alternative causes were looked for. Genetic testing for the most common variants, including SOD1, SMN1 and C9orf72, found no pathological change.
At one stage the patient was also given a course of intravenous immunoglobulin, but no improvement, either subjective or objective, was recorded afterwards.
Before treatment
By the time she came to us, the motor deficit in the legs remained the most marked feature.
The patient was troubled by:
- marked weakness of the left leg
- less marked weakness of the right leg
- almost complete loss of dorsiflexion of the left foot
- a steppage gait
- the need for an ankle-foot orthosis on the left
- a restricted distance of independent walking
- the need for additional support when moving about
- fasciculations
- rapid muscle fatigue and markedly reduced endurance
On objective assessment, the strength of individual muscle groups of the left leg was substantially reduced, particularly in the muscles that move the foot.
A later report noted that the patient could walk only short distances and needed bilateral support, with muscle exhaustion setting in quickly.
The main aims of the programme were to stabilise a progressive disease, preserve the motor reserve that remained, increase muscle strength and improve tolerance of physical exertion.
The programme
A personalised autologous programme of cell, immunoregulatory and neuroregenerative therapy was drawn up for the patient.
At the preparatory stage, peripheral venous blood and bone marrow were collected for the subsequent production and preparation of her own cell components for the programme.
The protocol that followed included:
- autologous therapy with mesenchymal stromal cells
- use of her own regulatory T cells
- systemic and neurally targeted cell components
- use of neurally induced mesenchymal cells
- concentrated exosome therapy
- intranasal peptide support
- two sessions of neurotherapy
The exact doses, the sequence of procedures and the technical parameters formed part of an individual internal protocol.
Course after treatment
After the programme the patient noted positive change above all in her motor capacity and tolerance of exertion.
Disease stabilisation
One of the most significant results was that the steady deterioration seen previously stopped.
Before the programme the disease had been marked by a gradual increase in weakness and motor limitation. Over the follow-up period the patient no longer noticed further progression of the neurological deficit.
Muscle strength
Increased strength in the limbs was noted.
Movement came more easily, and she was better able to make active use of the muscle capacity she retained when walking and carrying out everyday motor tasks.
This mattered particularly given the marked deficit in the legs at the outset and the predominant involvement of the left leg.
Physical endurance
One of the most noticeable subjective results was a considerable rise in physical endurance.
The patient was able to stay active for longer, tolerate a greater amount of physical exertion and tire less during her usual activities.
Given that it was precisely the rapid muscle exhaustion that had substantially limited her mobility before treatment, the improvement in endurance became one of the most functionally significant changes for her.
Outcome
After the individual autologous programme the most significant results were:
- the previous clinical progression of the disease stopped;
- no further steady increase in the motor deficit
- increased strength in the limbs;
- improved motor capacity
- a considerable rise in physical endurance;
- greater tolerance of everyday physical exertion
For a young patient who had previously been physically active, the combination of disease stabilisation with increased strength and endurance mattered particularly.
After a period of gradually losing motor capacity, the patient stopped noticing further deterioration and at the same time gained positive change in precisely the areas that limited her daily activity the most – muscle strength, walking and the ability to tolerate exertion.
This case is described from the patient's medical records and observation over the period after the programme. No personal data is published. The course of the disease and the response to treatment differ from patient to patient.